Search Results - "Mancuso, Irene"

Clinical Features of SARS-CoV-2 Infection in Italian Long-Term Care Facilities: GeroCovid LTCFs Observational Study by Malara, Alba, Noale, Marianna, Noale, Marianna, Abbatecola, Angela Marie, Borselli, Gilda, Cafariello, Carmine, Cafariello, Carmine, Fumagalli, Stefano, Gareri, Pietro, Mossello, Enrico, Trevisan, Caterina, Volpato, Stefano, Monzani, Fabio, Monzani, Fabio, Coin, Alessandra, Bellelli, Giuseppe, Okoye, Chukwuma, Del Signore, Susanna, Zia, Gianluca, Antonelli Incalzi, Raffaele, Abbatecola, Angela Marie, Addamo, Francesco Raffaele, Andrieri, Domenico, Antognoli, Rachele, Bianchi, Paola, Calsolaro, Valeria, Campagna, Francesco Antonio, Capurso, Sebastiano, Carino, Silvia, Castelli, Manuela, Ceretti, Arcangelo, Colombo, Mauro, Crispino, Antonella, Cucunato, Roberta, D'Amico, Ferdinando, Dell'Armi, Annalaura, Ferro, Christian, Fiorillo, Serafina, Gasbarri, Pier Paolo, Granata, Roberta, Grillo, Nadia, Guaita, Antonio, Iarrera, Marilena, Ippolito, Valerio Alex, Malara, Alba, Mancuso, Irene, Marelli, Eleonora, Moneti, Paolo, Osso, Sara, Perri, Agostino, Perticone, Maria, Romaniello, Carmine, Russo, Marcello, Sgrò, Giovanni, Sirianni, Federica, Spaccaferro, Deborah, Spadea, Fausto, Ursino, Rita

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Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis by Sabatelli, Mario, Eusebi, Fabrizio, Al-Chalabi, Ammar, Conte, Amelia, Madia, Francesca, Luigetti, Marco, Mancuso, Irene, Limatola, Cristina, Trettel, Flavia, Sobrero, Fabrizia, Di Angelantonio, Silvia, Grassi, Francesca, Di Castro, Amalia, Moriconi, Claudia, Fucile, Sergio, Lattante, Serena, Marangi, Giuseppe, Murdolo, Marina, Orteschi, Daniela, Del Grande, Alessandra, Tonali, Pietro, Neri, Giovanni, Zollino, Marcella

“…Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown etiology. Current thinking on SALS is that multiple genetic and…”
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Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis by Luigetti, Marco, Conte, Amelia, Madia, Francesca, Marangi, Giuseppe, Zollino, Marcella, Mancuso, Irene, Dileone, Michele, Del Grande, Alessandra, Di Lazzaro, Vincenzo, Tonali, Pietro Attilio, Sabatelli, Mario

“…Of all the SOD1 gene mutations described, uniquely the D90A mutation has been identified in recessive, dominant, and apparently sporadic cases. We describe a…”
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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome by ZOLLINO, Marcella, LECCE, Rosetta, OPITZ, John M, NERI, Giovanni, SELICORNI, Angelo, MURDOLO, Marina, MANCUSO, Irene, MARANGI, Giuseppe, ZAMPINO, Giuseppe, GARAVELLI, Livia, FERRARINI, Alessandra, ROCCHI, Mariano

“…A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first…”
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A novel L67P SOD1 mutation in an Italian ALS patient by del Grande, Alessandra, Luigetti, Marco, Conte, Amelia, Mancuso, Irene, Lattante, Serena, Marangi, Giuseppe, Stipa, Giuseppe, Zollino, Marcella, Sabatelli, Mario

“…Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in…”
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A novel L67P SOD1 mutation in an Italian ALS patient by del Grande, Alessandra, Luigetti, Marco, Conte, Amelia, Mancuso, Irene, Lattante, Serena, Marangi, Giuseppe, Stipa, Giuseppe, Zollino, Marcella, Sabatelli, Mario

“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of…”
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